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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02919 |
Bachmann-Bupp syndrome Neurodevelopmental disorder with alopecia and brain abnormalities |
... features, and characteristic neuroimaging findings. It has been reported that gain-of-function mutations in ODC1 gene cause this syndrome. ODC1 encodes ornithine decarboxylase 1, the rate-limiting enzyme in endogenous ... | Inherited metabolic disorder | ODC1 [HSA:4953] [KO:K01581] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |